Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SLC7A1_chr13_29504414_29600688	29559049	A A	AGGGGGAG others(31): Show AGGGGGAGTGAATCTGAATGAGGGGGGAGTGAATGTGAG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02132.hp2 NA18941.hp2 HG00558.hp2 HG02132.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0152 a0001c0001t0003g0175 a0001c0001t0003g0305 a0001c0001t0003g0152 a0001c0001t0003g0175 a0001c0001t0003g0305	3	330	0.0091	38	c.-11 others(57): Show c.-114-5190_-114-5189insCTCACATTCACTCCCCCCTCATTCAG ATTCACTCCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29559170	A A	AGGGGGAG others(31): Show AGGGGGAGTGAATCTGAATGAGGGGGGAGTGAATGTGAG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0191 a0001c0001t0003g0191	1	330	0.0030	38	c.-11 others(57): Show c.-114-5311_-114-5310insCTCACATTCACTCCCCCCTCATTCAG ATTCACTCCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A5_chr16_87825023_87874507	87872877	T T	TCCTTTCC others(31): Show TCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0327 a0001c0001t0007g0327	1	390	0.0026	38	c.-34 others(49): Show c.-3456_-3455insGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AAGG	SLC7A5	ENSG00000103257.9	transcript	ENST00000261622.5	protein_coding		3371		chr16	TogoVar
SLC7A5_chr16_87825023_87874507	87872917	T T	TCTTTCTT others(31): Show TCTTTCTTTCTTTCTCTCTCTCTCTTTCTTCCTTCCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0064 a0004c0008t0064	a0004c0008t0064g0319 a0004c0008t0064g0319	1	390	0.0026	38	c.-34 others(49): Show c.-3496_-3495insGAAGGAAGGAAGAAAGAGAGAGAGAGAAAGAAAG AAAG	SLC7A5	ENSG00000103257.9	transcript	ENST00000261622.5	protein_coding		3411		chr16	TogoVar
SLC9A2_chr2_102614553_102716355	102646768	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0335 a0001c0001t0007g0335	1	344	0.0029	38	c.290 others(57): Show c.290-10774_290-10773insATATATATATATATATATATATATAT ATATATATATAT	SLC9A2	ENSG00000115616.3	transcript	ENST00000233969.3	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC9A3_chr5_465456_529449	487207	C C	CACCGCAC others(31): Show CACCGCACTGACACCCACCGCACTGACACCGTGATCCCG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02004.hp2 HG02148.hp1 others(3): Show HG00642.hp2 HG02004.hp2 HG02148.hp1 NA19081.hp2 NA20300.hp2 NA20805.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0027 a0006c0015 a0001c0001 a0001c0027 a0006c0015	a0001c0001t0007 a0001c0001t0012 a0001c0027t0007 others(1): Show a0001c0001t0007 a0001c0001t0012 a0001c0027t0007 a0006c0015t0007	a0001c0001t0007g0032 a0001c0001t0007g0033 a0001c0001t0007g0035 others(3): Show a0001c0001t0007g0032 a0001c0001t0007g0033 a0001c0001t0007g0035 a0001c0001t0012g0182 a0001c0027t0007g0136 a0006c0015t0007g0004	6	218	0.0275	38	c.675 others(55): Show c.675+1108_675+1109insCGGGATCACGGTGTCAGTGCGGTGGGTG TCAGTGCGGT	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	3/16			chr5	TogoVar
SLC9A3_chr5_465456_529449	487275	C C	CACCACAC others(31): Show CACCACACTGACACCCACCACACTGACACCGTGATCCAG	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02602.hp2 HG02965.hp1 others(1): Show HG02056.hp2 HG02602.hp2 HG02965.hp1 HG03453.hp1	a0002 a0002	a0002c0002 a0002c0005 a0002c0029 a0002c0002 a0002c0005 a0002c0029	a0002c0002t0002 a0002c0005t0002 a0002c0029t0002 a0002c0002t0002 a0002c0005t0002 a0002c0029t0002	a0002c0002t0002g0099 a0002c0002t0002g0110 a0002c0005t0002g0153 others(1): Show a0002c0002t0002g0099 a0002c0002t0002g0110 a0002c0005t0002g0153 a0002c0029t0002g0108	4	218	0.0184	38	c.675 others(55): Show c.675+1040_675+1041insCTGGATCACGGTGTCAGTGTGGTGGGTG TCAGTGTGGT	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	3/16			chr5	TogoVar
SLC9A3_chr5_465456_529449	487411	C C	CACCACAC others(31): Show CACCACACTGACACCCACCACACTGACACCGTGATCCAG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02004.hp2 NA19081.hp2 others(3): Show HG00642.hp2 HG02004.hp2 NA19081.hp2 NA20129.hp2 NA20300.hp2 NA20805.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0015 a0001c0001 a0006c0015	a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 others(1): Show a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0006c0015t0007	a0001c0001t0007g0032 a0001c0001t0007g0033 a0001c0001t0007g0035 others(3): Show a0001c0001t0007g0032 a0001c0001t0007g0033 a0001c0001t0007g0035 a0001c0001t0011g0154 a0001c0001t0012g0182 a0006c0015t0007g0004	6	218	0.0275	38	c.675 others(53): Show c.675+904_675+905insCTGGATCACGGTGTCAGTGTGGTGGGTGTC AGTGTGGT	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	3/16			chr5	TogoVar
SLC9A9_chr3_143260222_143853468	143449327	A A	AAATATAA others(31): Show AAATATAATAATTATATAATTATATAAAATATAATAATT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03579.hp1 NA18906.hp2 HG03239.hp2 HG03579.hp1 NA18906.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0001c0001t0003 a0003c0006t0022 a0001c0001t0001 a0001c0001t0003 a0003c0006t0022	a0001c0001t0001g0082 a0001c0001t0003g0045 a0003c0006t0022g0108 a0001c0001t0001g0082 a0001c0001t0003g0045 a0003c0006t0022g0108	3	108	0.0278	38	c.146 others(59): Show c.1469+17709_1469+17710insAATTATTATATTTTATATAATTAT ATAATTATTATATT	SLC9A9	ENSG00000181804.15	transcript	ENST00000316549.11	protein_coding	12/15			chr3	TogoVar
SLC9B2_chr4_103017253_103081761	103057263	T T	TATGTATA others(31): Show TATGTATATATATATATGTATGTGTATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0022 a0003c0004t0022	a0003c0004t0022g0057 a0003c0004t0022g0057	1	356	0.0028	38	c.442 others(53): Show c.442+537_442+538insGTATATATATATATACACATACATATATAT ATATACAT	SLC9B2	ENSG00000164038.16	transcript	ENST00000394785.9	protein_coding	4/11			chr4	TogoVar
SLC9C1_chr3_112135898_112299216	112271393	G G	GTATATAT others(31): Show GTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18998.hp1 NA18966.hp2 NA18998.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0130 a0001c0002t0001g0131	2	372	0.0054	38	c.614 others(55): Show c.614-1317_614-1316insTATATATATATATATATATATATATATA TATATATATA	SLC9C1	ENSG00000172139.15	transcript	ENST00000305815.10	protein_coding	6/28			chr3	TogoVar
SLCO1B3_chr12_20805705_20921911	20918434	G G	GTATGTGT others(31): Show GTATGTGTGTGTGTGTGTGTATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02109.hp1 HG03139.hp2 others(1): Show HG01884.hp1 HG02109.hp1 HG03139.hp2 NA18960.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0002 a0002c0002t0006 a0002c0003t0003 a0002c0002t0002 a0002c0002t0006 a0002c0003t0003	a0002c0002t0002g0001 a0002c0002t0006g0104 a0002c0002t0006g0105 others(1): Show a0002c0002t0002g0001 a0002c0002t0006g0104 a0002c0002t0006g0105 a0002c0003t0003g0265	4	284	0.0141	38	c.21 others(49): Show c.2187_*2188insTATGTGTGTGTGTGTGTGTATATATATATATATA TATA	SLCO1B3	ENSG00000111700.13	transcript	ENST00000381545.8	protein_coding		1524		chr12	TogoVar
SLCO3A1_chr15_91848708_92170903	92047339	T T	TATATAAA others(31): Show TATATAAATATATAATATATAAATATATATAAATATATA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0032 a0002c0003t0032	a0002c0003t0032g0076 a0002c0003t0032g0076	1	190	0.0053	38	c.647 others(57): Show c.647-47537_647-47536insAATATATAATATATAAATATATATAA ATATATAATATA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLCO3A1_chr15_91848708_92170903	92047550	A A	AAATATAT others(31): Show AAATATATATAATATATAAATATATATATAAATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0001 a0001c0001t0042g0001	1	190	0.0053	38	c.647 others(57): Show c.647-47323_647-47322insTAATATATAAATATATATATAAATAT ATATAATATATA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLCO3A1_chr15_91848708_92170903	92143422	A A	ATGTAATA others(31): Show ATGTAATATATATATTATATATATATAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02258.hp1 HG02258.hp2 others(2): Show HG01496.hp1 HG02258.hp1 HG02258.hp2 HG02559.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0017 a0001c0002t0017 a0001c0002t0040 others(2): Show a0001c0001t0017 a0001c0002t0017 a0001c0002t0040 a0001c0002t0053 a0001c0009t0001	a0001c0001t0017g0066 a0001c0002t0017g0037 a0001c0002t0040g0036 others(2): Show a0001c0001t0017g0066 a0001c0002t0017g0037 a0001c0002t0040g0036 a0001c0002t0053g0180 a0001c0009t0001g0059	5	190	0.0263	38	c.151 others(57): Show c.1513-3561_1513-3560insGTAATATATATATTATATATATATAA AATATATATATT	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLCO4A1_chr20_62637503_62677293	62666118	G G	GCCCCCCC others(31): Show GCCCCCCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0268 a0002c0002t0002g0268	1	432	0.0023	38	c.127 others(55): Show c.1277-261_1277-260insCCCCCCCCTTCCCCTTCCCCTTCCCCTT CCCCTTCCCC	SLCO4A1	ENSG00000101187.16	transcript	ENST00000217159.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLCO6A1_chr5_102366774_102504001	102455027	T T	TATATATA others(31): Show TATATATATATATAAAAATATATATATATATATACATAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0278	1	342	0.0029	38	c.113 others(57): Show c.1131+3354_1131+3355insTTATGTATATATATATATATATTTTT ATATATATATAT	SLCO6A1	ENSG00000205359.10	transcript	ENST00000506729.6	protein_coding	6/13			chr5	TogoVar
SLFN12L_chr17_35459254_35542678	35469287	A A	AAAATATA others(31): Show AAAATATATATATATAAAATATATATATATTATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02896.hp2 HG03579.hp1 HG06807.hp2 HG02896.hp2 HG03579.hp1 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0020 a0001c0002 a0001c0020	a0001c0002t0035 a0001c0002t0136 a0001c0020t0035 a0001c0002t0035 a0001c0002t0136 a0001c0020t0035	a0001c0002t0035g0077 a0001c0002t0136g0087 a0001c0020t0035g0076 a0001c0002t0035g0077 a0001c0002t0136g0087 a0001c0020t0035g0076	3	360	0.0083	38	c.55 others(49): Show c.5598_*5635dupATATATATAATATATATATATTTTATATATATAT ATTT	SLFN12L	ENSG00000205045.12	transcript	ENST00000628453.4	protein_coding	5/5	5635		chr17	TogoVar
SLFNL1_chr1_41010597_41026725	41023747	G G	GCCCCCCC others(31): Show GCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	430	0.0023	38	c.-22 others(49): Show c.-2251_-2250insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGG	SLFNL1	ENSG00000171790.16	transcript	ENST00000302946.13	protein_coding		2023		chr1	TogoVar
SLIT2_chr4_20246905_20625561	20472295	G G	GATATATA others(31): Show GATATATATCTATATATCTATATATATAGATATATATCT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03942.hp2 HG02698.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0037 a0001c0004t0002 a0001c0001t0037 a0001c0004t0002	a0001c0001t0037g0187 a0001c0004t0002g0124 a0001c0001t0037g0187 a0001c0004t0002g0124	2	230	0.0087	38	c.467 others(55): Show c.467+4479_467+4480insTCTATATATCTATATATATAGATATATA TCTATATATA	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20472380	A A	ATATATAT others(31): Show ATATATATCTATATATATAGAGATATAGATATCTATATC	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA19043.hp1 HG03579.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0019 a0001c0001t0007 a0001c0001t0019	a0001c0001t0007g0166 a0001c0001t0019g0164 a0001c0001t0007g0166 a0001c0001t0019g0164	2	230	0.0087	38	c.467 others(55): Show c.467+4562_467+4563insATCTATATATATAGAGATATAGATATCT ATATCTATAT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20472527	T T	TATAGATA others(31): Show TATAGATATAGATATATCTATATAGATATATCTATATAG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG03239.hp1 HG01256.hp2 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0043 a0001c0001t0001 a0001c0002t0043	a0001c0001t0001g0090 a0001c0002t0043g0064 a0001c0001t0001g0090 a0001c0002t0043g0064	2	230	0.0087	38	c.467 others(55): Show c.467+4707_467+4708insGATATAGATATATCTATATAGATATATC TATATAGATA	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20472554	A A	ATAGATAT others(31): Show ATAGATATATCTATATATATCGATATATATAGATATATC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0230 a0001c0001t0003g0230	1	230	0.0044	38	c.467 others(55): Show c.467+4731_467+4732insTAGATATATCTATATATATCGATATATA TAGATATATC	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	5/36			chr4	TogoVar
SLIT2_chr4_20246905_20625561	20472620	C C	CGATATAT others(31): Show CGATATATATAGATATATCGATATATATCGATATATATA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0158 a0001c0001t0051g0158	1	230	0.0044	38	c.467 others(55): Show c.467+4804_467+4805insATAGATATATCGATATATATCGATATAT ATAGATATAT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20472620	C C	CGATATAT others(31): Show CGATATATATAGATATATCTATATATATCGATATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0230 a0001c0001t0003g0230	1	230	0.0044	38	c.467 others(55): Show c.467+4804_467+4805insATAGATATATCTATATATATCGATATAT ATAGATATAT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20472629	T T	TAGATATA others(31): Show TAGATATATCGATATATATAGATATATCTAGATATATCG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0030 a0001c0001t0061g0030	1	230	0.0044	38	c.467 others(55): Show c.467+4807_467+4808insGATATATCGATATATATAGATATATCTA GATATATCGA	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT3_chr5_168656740_169306139	168757117	A A	ATGGAGGT others(31): Show ATGGAGGTTTTGTAAGAGCCGATCACATTCTTAGAGCAG	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0003 a0003	a0003c0033 a0003c0033	a0003c0033t0007 a0003c0033t0007	a0003c0033t0007g0108 a0003c0033t0007g0108	1	132	0.0076	38	c.168 others(57): Show c.1686-3148_1686-3111dupCTGCTCTAAGAATGTGATCGGCTCTT ACAAAACCTCCA	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	16/35			chr5	TogoVar
SLMAP_chr3_57751309_57935003	57893709	C C	CCTTTTGT others(31): Show CCTTTTGTAACCATATATGGAGATTAGATGTAATAGCCT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0290	1	310	0.0032	38	c.136 others(57): Show c.1361-2771_1361-2770insATAGCCTCTTTTGTAACCATATATGG AGATTAGATGTA	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	15/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLTM_chr15_58874050_58938679	58882181	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA18906.hp1 NA19056.hp2 others(3): Show HG00438.hp1 NA18906.hp1 NA19056.hp2 NA19066.hp1 NA19067.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0239 a0001c0001t0002g0304 a0001c0001t0002g0321 others(3): Show a0001c0001t0001g0239 a0001c0001t0002g0304 a0001c0001t0002g0321 a0001c0001t0002g0328 a0001c0001t0002g0334 a0001c0001t0002g0342	6	386	0.0155	38	c.299 others(57): Show c.2996+1444_2996+1445insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	SLTM	ENSG00000137776.17	transcript	ENST00000380516.7	protein_coding	20/20			chr15	TogoVar
SLX9_chr21_44935029_44981973	44979391	G G	GAGGGTGC others(31): Show GAGGGTGCCGCGGAAGGGAGGAGGATGCCGCGGAAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0232 a0002c0002t0001g0232	1	334	0.0030	38	c.25 others(49): Show c.2588_*2589insAGGGTGCCGCGGAAGGGAGGAGGATGCCGCGGAA GGGA	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		2419		chr21	TogoVar
SMAD2_chr18_47803957_47935659	47882041	C C	CTTTTTTT others(31): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0301 a0001c0001t0001g0301	1	310	0.0032	38	c.237 others(57): Show c.237-11478_237-11477insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	2/10			chr18	TogoVar
SMAGP_chr12_51239558_51275415	51248434	A A	ACACACAC others(31): Show ACACACACACACACACACTCTCACTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0267 a0001c0001t0008g0267	1	410	0.0024	38	c.35- others(53): Show c.35-1604_35-1603insAGAGAGAGAGAGAGAGTGAGAGTGTGTGTG TGTGTGTG	SMAGP	ENSG00000170545.17	transcript	ENST00000603798.6	protein_coding	2/3			chr12	TogoVar
SMARCA2_chr9_2010347_2198620	2021958	C C	CCGAGATC others(31): Show CCGAGATCACAGAGACCCGGCGAGATCACAGAGACCCGG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02622.hp2 HG02717.hp2 others(2): Show HG01243.hp2 HG02622.hp2 HG02717.hp2 HG03041.hp2 NA18522.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0007 others(1): Show a0001c0001 a0001c0003 a0003c0007 a0003c0012	a0001c0001t0001 a0001c0003t0001 a0001c0003t0011 others(2): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0011 a0003c0007t0003 a0003c0012t0001	a0001c0001t0001g0265 a0001c0003t0001g0262 a0001c0003t0011g0266 others(2): Show a0001c0001t0001g0265 a0001c0003t0001g0262 a0001c0003t0011g0266 a0003c0007t0003g0264 a0003c0012t0001g0263	5	316	0.0158	38	c.-37 others(55): Show c.-37+6556_-37+6593dupGAGATCACAGAGACCCGGCGAGATCACA GAGACCCGGC	SMARCA2	ENSG00000080503.25	transcript	ENST00000349721.8	protein_coding	1/33		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMARCA2_chr9_2010347_2198620	2176182	G G	GTTTTTTT others(31): Show GTTTTTTTTTTTTTTGTTTTTTTTTTTTTTGTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0005 a0005	a0005c0028 a0005c0028	a0005c0028t0001 a0005c0028t0001	a0005c0028t0001g0234 a0005c0028t0001g0234	1	316	0.0032	38	c.425 others(57): Show c.4254-5375_4254-5374insGTTTTTTTTTTTTTTGTTTTTTTTTT TTTTTTTTTTTT	SMARCA2	ENSG00000080503.25	transcript	ENST00000349721.8	protein_coding	29/33		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMARCA2_chr9_2010347_2198620	2176188	T T	TTTTTTTT others(31): Show TTTTTTTTTGTTTTTTTTTTTTTTGTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0068 a0002c0005t0001g0068	1	316	0.0032	38	c.425 others(57): Show c.4254-5375_4254-5374insGTTTTTTTTTTTTTTGTTTTTTTTTT TTTGTTTTTTTT	SMARCA2	ENSG00000080503.25	transcript	ENST00000349721.8	protein_coding	29/33		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMARCA4_chr19_10956030_11067273	11061204	A A	AAAAAAAA others(31): Show AAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0239 a0001c0002t0001g0239	1	286	0.0035	38	c.491 others(55): Show c.4912-579_4912-578insAAAAAAAAAATATATATATATATATATA TATATATATA	SMARCA4	ENSG00000127616.22	transcript	ENST00000344626.10	protein_coding	34/34		INFO_REALIGN_3_PRIME	chr19	TogoVar
SMARCAD1_chr4_94202865_94296292	94275796	C C	CTTTTTTT others(31): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0146 a0002c0003t0003g0146	1	322	0.0031	38	c.180 others(55): Show c.1809-525_1809-524insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	SMARCAD1	ENSG00000163104.18	transcript	ENST00000354268.9	protein_coding	14/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMG6_chr17_2054843_2308785	2114959	T T	TAAAATAA others(31): Show TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01884.hp2 HG02145.hp2 others(1): Show HG00642.hp1 HG01884.hp2 HG02145.hp2 HG02809.hp2	a0004 a0019 a0004 a0019	a0004c0004 a0019c0021 a0004c0004 a0019c0021	a0004c0004t0001 a0004c0004t0008 a0019c0021t0012 a0004c0004t0001 a0004c0004t0008 a0019c0021t0012	a0004c0004t0001g0053 a0004c0004t0008g0015 a0004c0004t0008g0016 others(1): Show a0004c0004t0001g0053 a0004c0004t0008g0015 a0004c0004t0008g0016 a0019c0021t0012g0220	4	278	0.0144	38	c.335 others(59): Show c.3358-29059_3358-29058insTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTT	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	13/18			chr17	TogoVar
SMIM3_chr5_150773757_150801734	150797318	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19087.hp1 NA19088.hp2 NA19087.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	406	0.0049	38	c.16 others(49): Show c.1695_*1696insTATATATATATATATATATATATATATTTTTTTT TTTT	SMIM3	ENSG00000256235.3	transcript	ENST00000526627.2	protein_coding		585		chr5	TogoVar
SMIM3_chr5_150773757_150801734	150797318	A A	ATATATAT others(31): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	406	0.0025	38	c.16 others(49): Show c.1695_*1696insTATATATATATATATATATTTTTTTTTTTTTTTT TTTT	SMIM3	ENSG00000256235.3	transcript	ENST00000526627.2	protein_coding		585		chr5	TogoVar
SMIM45_chr22_41947150_41963939	41958483	G G	GGAGAGAG others(31): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0037 a0001c0001t0019g0037	1	382	0.0026	38	c.61 others(47): Show c.616_*617insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AG	SMIM45	ENSG00000205704.9	transcript	ENST00000381348.5	protein_coding	2/2	617	INFO_REALIGN_3_PRIME	chr22	TogoVar
SMIM8_chr6_87317588_87347329	87332320	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0074 a0001c0001t0022g0074	1	420	0.0024	38	c.-24 others(55): Show c.-24+1614_-24+1615insATATATATATATATATATATATATATAT ATATATATAT	SMIM8	ENSG00000111850.11	transcript	ENST00000392863.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMN1_chr5_70920087_70958015	70936151	C C	CTTTTTTT others(31): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	36	0.0278	38	c.82- others(53): Show c.82-2672_82-2671insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	SMN1	ENSG00000172062.17	transcript	ENST00000380707.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SMOC1_chr14_69874416_70037366	69875963	G G	GATATATA others(31): Show GATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG03017.hp1 NA18992.hp2 HG00140.hp2 HG03017.hp1 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0005 a0001c0002t0002 a0001c0001t0004 a0001c0001t0005 a0001c0002t0002	a0001c0001t0004g0015 a0001c0001t0005g0239 a0001c0002t0002g0023 a0001c0001t0004g0015 a0001c0001t0005g0239 a0001c0002t0002g0023	3	270	0.0111	38	c.-37 others(49): Show c.-3716_-3715insATATATATATATATATATATATATATATATATAT ATAT	SMOC1	ENSG00000198732.11	transcript	ENST00000361956.8	protein_coding		3452		chr14	TogoVar
SMPD2_chr6_109435724_109448919	109448097	G G	GACACACA others(31): Show GACACACACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG03130.hp1 HG03453.hp2 others(4): Show HG00408.hp2 HG03130.hp1 HG03453.hp2 HG03579.hp1 HG03710.hp1 NA20300.hp2 NA21309.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0002 a0003c0003 a0004c0005 a0001c0002 a0003c0003 a0004c0005	a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 others(2): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0003c0003t0002 a0004c0005t0001	a0001c0002t0001g0003 a0001c0002t0002g0002 a0001c0002t0005g0002 others(2): Show a0001c0002t0001g0003 a0001c0002t0002g0002 a0001c0002t0005g0002 a0003c0003t0002g0001 a0004c0005t0001g0003	7	438	0.0160	38	c.41 others(49): Show c.4192_*4193insACACACACACACACACACACACACACACACACAC ACAC	SMPD2	ENSG00000135587.9	transcript	ENST00000258052.8	protein_coding		4179		chr6	TogoVar
SMTNL2_chr17_4579529_4613319	4610377	T T	TTGTTTTT others(31): Show TTGTTTTTTTTTAGTTTTTTTTTATTGTTTTTTTTATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0225 a0001c0006t0003g0225	1	442	0.0023	38	c.28 others(49): Show c.2890_*2891insTGTTTTTTTTTAGTTTTTTTTTATTGTTTTTTTT ATTA	SMTNL2	ENSG00000188176.12	transcript	ENST00000389313.9	protein_coding		2059		chr17	TogoVar
SMU1_chr9_33036765_33081674	33039536	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG04184.hp2 NA19080.hp2 others(2): Show HG03942.hp1 HG04184.hp2 NA19080.hp2 NA20300.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0086	a0001c0001t0002g0004 a0001c0001t0005g0010 a0001c0001t0005g0312 others(2): Show a0001c0001t0002g0004 a0001c0001t0005g0010 a0001c0001t0005g0312 a0001c0001t0008g0053 a0001c0001t0086g0301	5	418	0.0120	38	c.77 others(49): Show c.7756_*7757insATATATATATATATATATATATATATATATATAT ATAT	SMU1	ENSG00000122692.9	transcript	ENST00000397149.4	protein_coding		2228		chr9	TogoVar
SMURF1_chr7_99022440_99149108	99063259	A A	ATATATAA others(31): Show ATATATAAGATTTATATATATATATATATATATAAGATT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0243 a0001c0001t0007g0243	1	264	0.0038	38	c.56- others(53): Show c.56-1423_56-1422insAATCTTATATATATATATATATATATAAAT CTTATATA	SMURF1	ENSG00000198742.10	transcript	ENST00000361368.7	protein_coding	1/17			chr7	TogoVar
SMURF1_chr7_99022440_99149108	99063261	A A	ATAAGATT others(31): Show ATAAGATTTATATATATATATATATATATATATAAGATT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	264	0.0038	38	c.56- others(53): Show c.56-1425_56-1424insAATCTTATATATATATATATATATATATAT AAATCTTA	SMURF1	ENSG00000198742.10	transcript	ENST00000361368.7	protein_coding	1/17			chr7	TogoVar
SMURF2_chr17_64537282_64667307	64573196	A A	AGGGGGGA others(31): Show AGGGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGAGGAG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0111 a0001c0001t0014g0111	1	174	0.0058	38	c.858 others(55): Show c.858-1241_858-1240insCTCCTCCTCCTCCTCCTCCCCCTCCTCC TCCTCCCCCC	SMURF2	ENSG00000108854.16	transcript	ENST00000262435.14	protein_coding	9/18			chr17	TogoVar

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Search Results (Total: 5880 hits)